Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E et al.
Molecular Genetics & Genomic Medicine, 2024
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN et al.
Human Mutation, 2020
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L et al.
Human Molecular Genetics, 2019
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
Olivetti PR et al.
Current Opinion in Neurobiology, 2012
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
Shoubridge C et al.
Human Molecular Genetics, 2012
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
Cho G et al.
Neurogenetics, 2012
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Conti V et al.
American Journal of Medical Genetics. Part A, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Marsh E et al.
Brain : a Journal of Neurology, 2009
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C et al.
Bmc Medical Genetics, 2007
The role of ARX in cortical development.
Friocourt G et al.
The European Journal of Neuroscience, 2006
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Bhat SS et al.
American Journal of Medical Genetics. Part A, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M et al.
Journal of Child Neurology, 2005
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Poirier K et al.
Brain Research. Molecular Brain Research, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M et al.
Human Mutation, 2004
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Current Opinion in Pediatrics, 2003
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G et al.
Neurology, 2003
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K et al.
Nature Genetics, 2002